Hyper-IgE Syndrome(Hyperimmunoglobulin E syndrome) Explore Disorder's Alias
An Autosomal dominant, Autosomal recessive mode(s) within the Immune disorders category
Candidate Gene Information
An Autosomal dominant, Autosomal recessive mode(s) within the Immune disorders category
Reported Pathogenic variants
| S.No. | Name/GeneID | Description | Cytogentic Band | Gene Location on genomic DNA | Gene Length | Exons | Details | Gene Cross-References |
| 1 | STAT3/6774 | signal transducer and activator of transcription 3 | 17q21.2 | Chr17, NC_000017.11 (42313324..42388442, complement) |
75119 nt | 24 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 2 | PGM3/5238 | phosphoglucomutase 3 | 6q14.1 | Chr6, NC_000006.12 (83148705..83193900, complement) |
45196 nt | 18 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 3 | DOCK8/81704 | dedicator of cytokinesis 8 | 9p24.3 | Chr9, NC_000009.12 (211257..465255) |
253999 nt | 53 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 4 | STAT6/6778 | signal transducer and activator of transcription 6 | 12q13.3 | Chr12, NC_000012.12 (57095408..57111362, complement) |
15955 nt | 23 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| Variant Information | ||||||||
| Disorder Cross-References: Orphanet OMIM GARD GTR MedGen MalaCards EMBL-EBI OLS Monarch Initiative NORD | ||||||||
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Clinical Symptoms & Disabilities